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[The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure]
M Di Rocco1, E Lignana, M Faraci
1II Divisione Pediatrica, Istituto G. Gaslini, Genova.
Minerva Pediatrica
|April 1, 1993
Abstract:
We report on an Italian patient with growth excess, course face and normal psychomotor development, who had a diagnosis of Simpson-Golabi-Behmel. The clinical difference between this syndrome and lysosomal diseases and other syndromes with overgrowth is discussed.